GATA4 GATA binding protein 4
Gene ID: 2626, updated on 12-Nov-2024Gene type: protein coding
Also known as: TOF; ASD2; VSD1; TACHD
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- Go to complete Gene record for GATA4
- Go to Variation Viewer for GATA4 variants
Summary
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. GeneReviews: Not available | |
| Atrial septal defect 2 | not available |
| Atrioventricular septal defect 4 | not available |
| Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. GeneReviews: Not available | |
| Testicular anomalies with or without congenital heart disease | not available |
| Tetralogy of Fallot | not available |
| Ventricular septal defect 1 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-02-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-02-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 8p23.1
- Sequence:
- Chromosome: 8; NC_000008.11 (11676935..11760002)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GATA4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GATA4 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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